International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 13 - IDENTIFICATION OF THE BREAKPOINTS OF CHROMOSOMAL INVERSIONS IN HAIRY EAR (EH) AND KOALA (KOA) MUTANT MICE

Katayama K
Graduate School of Natural Science and Technology, University of Okayama

Co-Authors: Miyamoto S, Furuno A, Tsuji T, Kunieda T
Institutions: Graduate School of Natural Science and Technology, University of Okayama

Eh and Koa mutant mice have chromosomal inversions on chromosome 15 and most of their inverted regions are common to the both mutants. Eh heterozygotes have hairy short pinna and slightly roundy-shaped face, and Koa heterozygotes exhibit hairy pinna and swell of whisker pad. It is likely that the phenotypes of these mutants are caused by disruption and/or altered expression of gene(s), which localized on or near the breakpoints of the inversions. In this study, we defined the breakpoints of the both inversions by creating the mice with chromosomal deletions, which result from the recombination within the common inverted region of the both mutations. The deleted regions must be flanked by the breakpoints of Eh and Koa mutants. Consequently, the Eh inversion was revealed to occur in a 47Mbp region of distal half of chromosome 15, and the proximal and distal breakpoints are located at 39 kb proximal to LOC223591 gene and at 8kb distal to Hoxc-4 gene, respectively. The Koa inversion was also revealed to occur in a 52Mbp region of distal half of chromosome15, and the proximal and distal breakpoints are located at 40kb distal to LOC239434 gene and in LOC239681 gene, respectively. These gene and predicted genes could be candidate genes for these mutants. In addition, we found that Eh homozygotes exhibited cleft palate and died within 24hr after birth and the gene responsible for the cleft palate is likely to be located around the proximal breakpoint of the Eh inversion.


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